Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Sacral dimple

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.


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PMID (PMCID)
1877620
 FEMALE Infant, Newborn
Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.
Halal F, Vekemans M, Chitayat D.
Am J Med Genet. 1991;39(4):418-21.
Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple.